In patients with acid sphingomyelinase deficiency (ASMD) types A/B and B, death is often premature¹
Of the total deaths reported in a natural history study, 67% (12/18) were in pediatric patients (≤21 years of age). Mortality rates were 20% (12/61) in the pediatric group and 14% (6/42) in the adult group over a follow-up period of 20 years.1,2
SURVIVAL DISTRIBUTION IN PATIENTS WITH ASMD TYPES A/B and B (N=103)1-4
McGovern MM, et al. Genet Med. 2013:15(8):618-623.
United States Life Tables, 2017.
World Health Organization Life Tables, April 2018.
A 20-year natural history study evaluated morbidity and mortality in 103 patients with ASMD types A/B (n=8) and B (n=95). At entry, 61 patients were in the pediatric age group (≤21 years of age) and 42 patients were adults (>21 years of age). There were 18 deaths during the follow-up period2
ASMD is a potentially life-threatening disease¹
The ongoing multiorgan damage caused by ASMD may lead to early mortality in both pediatric and adult patients1
Causes of death
The leading causes of death in ASMD types A/B and B are liver and respiratory disease5
In a global study examining the leading causes of death among patients with ASMD (N=85)5,a:
- Among patients with terminal liver disease (n=23), 52% died or had a transplant in childhoodb and 48% in adulthoodc
- Among patients who died of respiratory disease (n=23), 48% died in childhoodd and 52% in adulthood
PRIMARY CAUSES OF DEATH IN PATIENTS WITH ASMD TYPES A/B AND B5
Cassiman D, et al. Mol Genet Metab. 2016;118(3):206-213
A retrospective global study evaluated the causes of death and disease-related morbidity among patients with ASMD types B (n=58) and A/B (n=27). Data for 85 patients who died (n=78) or received liver transplant (n=7) were collected by treating physicians (n=27) or abstracted from previously published case studies (n=58)5
a Based on a retrospective global study of 85 patients with ASMD.5
b Age range: 2.5 to 18 years.5
c Age range: 21 to 67 years.5
d Age range: 0.6 to 17 years.5
Failure to manage ASMD could have serious consequences for patients⁵
Ongoing monitoring and disease management with a focus on maintaining liver and pulmonary function is critical5
References: 1. McGovern MM, Avetisyan R, Sanson B-J, Lidove O. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis. 2017;12:41. doi:10.1186/s13023-017-0572-x. 2. McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP. Morbidity and mortality in type B Niemann-Pick disease. Genet Med. 2013;15(8):618-623. doi:10.1038/gim.2013.4. 3. Arias E, Xu J. United States Life Tables, 2017. Natl Vital Stat Rep. 2019;68(7):1-66. 4. World Health Organization. Life tables by WHO region: global. https://apps.who.int/gho/data/view.main.LIFEREGIONGLOBAL. Updated April 20, 2018. Accessed February 18, 2020. 5. Cassiman D, Packman S, Bembi B, et al. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): literature review and report of new cases. Mol Genet Metab. 2016;118(3):206-213. doi:10.1016/j.ymgme.2016.05.001.